Pseudohermaphroditism, glomerulopathy, and Wilms tumor (Drash syndrome): frequency in end-stage renal failure

J Pediatr. 1985 Apr;106(4):584-7. doi: 10.1016/s0022-3476(85)80076-7.

Abstract

The sporadic concurrence of male pseudohermaphroditism and chronic glomerulopathy is associated with an extremely high risk of Wilms tumor. We report our experience with an infant who developed this triad (Drash syndrome) and review the 21 patients described in the literature, to emphasize the importance of early diagnosis and to suggest guidelines for management. The dysgenetic gonads are always intra-abdominal and carry a 20% to 30% risk for malignancy. The external genitalia are frequently ambiguous (77%); some children are phenotypically normal females. The glomerulopathy typically leads to end-stage renal failure in infancy; the subsequent death rate has, to date, been 68%. The clinical presentation of renal disease is variable and includes congenital nephrotic syndrome (14%) and infantile nephrotic syndrome (41%); 27% of patients develop proteinuria and renal insufficiency between the ages of 1 and 3 years. The high risk of Wilms tumor (55% in this review) mandates regular tumor surveillance, and prophylactic bilateral nephrectomy and gonadectomy once irreversible renal failure develops.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Disorders of Sex Development* / complications
  • Disorders of Sex Development* / diagnosis
  • Disorders of Sex Development* / therapy
  • Female
  • Glomerulosclerosis, Focal Segmental / etiology
  • Glomerulosclerosis, Focal Segmental / pathology
  • Humans
  • Infant
  • Kidney / pathology
  • Kidney Failure, Chronic* / complications
  • Kidney Failure, Chronic* / diagnosis
  • Kidney Failure, Chronic* / therapy
  • Nephrectomy
  • Risk
  • Syndrome
  • Ultrasonography
  • Wilms Tumor* / diagnosis
  • Wilms Tumor* / etiology
  • Wilms Tumor* / therapy